Canonical Allele Identifier: CA1581267371

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330657T= , CM000667.2:g.128330657T=	GRCh38
NC_000005.9:g.127666349T= , CM000667.1:g.127666349T=	GRCh37
NC_000005.8:g.127694248T=	NCBI36
NG_008750.1:g.212387A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1045A=
ENST00000703785.1:n.1126A=
ENST00000262464.9:c.4261A= MANE Select	ENSP00000262464.4:p.Ile1421=
ENST00000262464.8:c.4261A=	ENSP00000262464.4:p.Ile1421=
ENST00000507835.5:c.811A=	ENSP00000426839.1:p.Ile271=
ENST00000508053.5:c.4261A=	ENSP00000424571.1:p.Ile1421=
ENST00000508989.5:c.4162A=	ENSP00000425596.1:p.Ile1388=
ENST00000619499.4:c.4258A=	ENSP00000482132.1:p.Ile1420=
NM_001999.3:c.4261A=	NP_001990.2:p.Ile1421=
XM_017009228.2:c.4108A=	XP_016864717.1:p.Ile1370=
NM_001999.4:c.4261A= MANE Select	NP_001990.2:p.Ile1421=